| 11 q Deletion Syndrome. |
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Y B Im1, S B Park1, B Y Pyun1, J O Park1, S J Lee1, S Y Moon2 |
1Department of Pediatrics, College of Medicine, Soon Chun Hyang University, Seoul, Korea
2Department of Obstetrics and Gynecology, College of Medicine, Seoul National University, Seoul, Korea |
| llq 결손 증후군 1례 |
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임양빈1, 박순복1, 편복양1, 박재옥1, 이상주1, 문신용2 |
1순천향의대 소아과학교실
2서울대학교 의과대학 산부인과학교실 |
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Received: 2 September 1988 • Accepted: 1 October 1988 |
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| Abstract |
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llq deletion syndrome is a rare chromosomal anomaly.
The authors experienced a case of llq deletion syndrome with congenital glaucoma and infantile
spasm in a female child. She showed delayed psychomotor development, flat occiput, hypertelorism,
low set malformed ears, flat nasal bridge, short neck, simian line on right palm and throm.
bocytopenia.
Chromosomal study showed the deletion of the long arm of chromosme 11, karyotypically she was
depicted as 46, XX, 11q-
So, we report this case with a brief review of the literature
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| Key Words:
11q deletion syndrome, Congenital glaucoma, Infantile spasm |
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